Female pseudohermaphroditism with hypoadrenia.

Two infants presenting the syndrome of true female pseudohermaphroditism and associated hypoadrenia have been described. The essentially identical clinical features encountered in these infants may be summarized as follows: 1. Characteristic history with (a) anorexia, noted shortly after birth; (b) weakness; (c) vomiting, repeated and frequently projectile, beginning at about 3 weeks of age; (d) frequent attacks of diarrhea; (e) progressive loss of weight; (f) emaciation; severe dehydration and shock at about the age of 3 to 4 months. 2. Abnormalities of the external genitalia: (a) a greatly enlarged clitoris simulating a penis as to size, shape, ventral bowing and preputial covering; (b) a "urinary meatus" situated along the under surface of the clitoris or the perineum; (c) a "scrotal sac," bifid or united in the midline with a median raphe, with typical corrugations and exhibiting the dartos effect. 3. Occurrence of crises associated with decrease in the sodium and chloride and elevation of the potassium of the serum. 4. Elevated urinary excretion of 17-ketosteroids. 5. Special urologic studies: (a) urethrocystoscopy which revealed the presence of a urogenital sinus, bladder trigone of the female type, "prostatic urethra" which contains a flattened veru montanum and an elongated utricle; (b) retrograde injection of radiopaque dye through the utricular slit resulted in definite colpohysterosalpingograms with free dye spilled out into the peritoneal cavity. 6. Exploratory laparotomy disclosed the presence of normal female internal genitalia and the absence of male gonadal tissue. 7. Biopsy of the ovaries disclosed primordial follicles. 8. Satisfactory response to the management of the adrenocortical insufficiency by the administration of sodium chloride alone or in combination with desoxycorticosterone acetate. The advisability of surgical resection of the adrenals in order to diminish the production of androgens is discussed. In the event there are no signs of adrenocortical insufficiency, it is suggested that excision of adrenocortical tissue be performed even though the improvement effected may be small and of a temporary nature. On the other hand, where hypoadrenia is a part of the clinical picture such surgery would be distinctly hazardous and would therefore seem contraindicated. The importance of safeguarding the healthy psychologic development of these patients is emphasized.